IthaID: 3254

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs5742909 HGVS Name: NG_011502.1:g.4839C>T

Context nucleotide sequence:

Also known as: -318 C/T

Comments: SNP (T allele) associated with a higher risk of post-transfusion alloantibody development in sickle cell disease patients from Brazil.

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Red blood cell alloimmunisation


Chromosome: 2
Locus: NG_011502.1
Locus Location: 4839
Size: 1 bp
Located at: CTLA4
Specific Location: Promoter

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Promoter (Transcription)
Ethnic Origin: Brazilian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Oliveira VB, Dezan MR, Gomes FCA, Menosi Gualandro SF, Krieger JE, Pereira AC, Marsiglia JD, Levi JE, Rocha V, Mendrone-Junior A, Sabino EC, Dinardo CL, -318C/T polymorphism of the CTLA-4 gene is an independent risk factor for RBC alloimmunization among sickle cell disease patients., Int. J. Immunogenet. , 2017 PubMed
Created on 2017-09-06 18:23:04, Last reviewed on (Show full history)

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